Primary Identifier | MGI:1270854 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 103988 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glucokinase activity. Involved in calcium ion import; intracellular glucose homeostasis; and positive regulation of insulin secretion. Acts upstream of or within several processes, including NADP metabolic process; carbohydrate phosphorylation; and regulation of insulin secretion. Located in cytosol; mitochondrion; and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; musculoskeletal system; and sensory organ. Used to study familial hyperinsulinemic hypoglycemia 3; hyperinsulinemic hypoglycemia; maturity-onset diabetes of the young type 2; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in artery disease (multiple) and glucose metabolism disease (multiple). Orthologous to human GCK (glucokinase). PHENOTYPE: Targeted disruption of this gene causes mild hyperglycemia in heterozygous mice and extreme hyperglycemia and embryonic to postnatal lethality in homozygous mice. Hyperglycemic knock-out or ENU-induced mutants may show reduced body weight and liver glycogen level, hepatic steatosis, and glucosuria. [provided by MGI curators] |